Gilfillan Gregor D, Selmer Kaja K, Roxrud Ingrid, Smith Raffaella, Kyllerman Mårten, Eiklid Kristin, Kroken Mette, Mattingsdal Morten, Egeland Thore, Stenmark Harald, Sjøholm Hans, Server Andres, Samuelsson Lena, Christianson Arnold, Tarpey Patrick, Whibley Annabel, Stratton Michael R, Futreal P Andrew, Teague Jon, Edkins Sarah, Gecz Jozef, Turner Gillian, Raymond F Lucy, Schwartz Charles, Stevenson Roger E, Undlien Dag E, Strømme Petter
Department of Medical Genetics, Ullevål University Hospital, NO-0407 Oslo, Norway.
Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13.
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.
对一个表现出X连锁智力迟钝（XLMR）综合征的家族进行连锁分析和DNA测序，该综合征的特征为小头畸形、癫痫、共济失调、无语言能力且类似于天使综合征，结果在编码Na(+)/H(+)交换体NHE6的SLC9A6基因中发现了一个缺失。随后，在一名因天使综合征接受调查的智力迟钝（MR）男性以及两个患有癫痫和共济失调的XLMR家族（包括被认定为患有克里斯蒂安森综合征的家族）中发现了其他突变。因此，SLC9A6基因的突变会导致X连锁智力迟钝。此外，具有提示不明原因天使综合征表现的男性应被视为SLC9A6基因突变的潜在候选者。
